Author

Aneal Khan

University of CalgaryORCID 0000-0001-8131-7947Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amy C. GoldsteiniD· 1 shared Andrew SymesiD· 1 shared April N. LehmaniD· 1 shared Arnaud Vincent VanlanderiD· 1 shared Austin A LarsoniD· 1 shared Bruce H. CoheniD· 1 shared Claudia Soler‐AlfonsoiD· 1 shared David M CassimaniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy C. GoldsteinORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 15, 2026

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove…·Jennifer H. Yang

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

1 citation

humanproteomics

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Molecular BiologyJournal of Biological ChemistryPeer-reviewedAug 24, 2022

Functional characterization of two variants in the mitochondrial topoisomerase gene TOP1MT that impact regulation of the mitochondrial genome

Iman Al Khatib, Jingti Deng, Andrew Symes…·Timothy E. Shutt

The paper characterizes two TOP1MT variants in a patient with hypertrophic cardiomyopathy, showing both impair mitochondrial functions but affect different aspects of mtDNA regulation.

17 citations

humanwhole-exome sequencing

𝕏 PostBluesky